NM_001999.4(FBN2):c.1181G>A (p.Arg394His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200812.3

Allele description [Variation Report for NM_001999.4(FBN2):c.1181G>A (p.Arg394His)]

NM_001999.4(FBN2):c.1181G>A (p.Arg394His)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.1181G>A (p.Arg394His)
HGVS:
  • NC_000005.10:g.128395172C>T
  • NG_008750.1:g.147871G>A
  • NM_001999.4:c.1181G>AMANE SELECT
  • NP_001990.2:p.Arg394His
  • NC_000005.9:g.127730865C>T
  • NM_001999.3:c.1181G>A
  • p.R394H
Protein change:
R394H
Links:
dbSNP: rs150790914
NCBI 1000 Genomes Browser:
rs150790914
Molecular consequence:
  • NM_001999.4:c.1181G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250272GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000250272.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disorders (Collod-Beroud et al., 2003; Frederic et al, 2009).; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 213388; Landrum et al., 2016)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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